Linked Data
ClinVar Variation Id:
354134
ClinVar RCV Id:
RCV000366647
dbSNP Id:
rs202227927
ExAC:
5:74011468 A / C
gnomAD v2:
5-74011468-A-C
gnomAD v3:
5-74715643-A-C
gnomAD v4:
5-74715643-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715643A>C , CM000667.2:g.74715643A>C | GRCh38 |
| NC_000005.9:g.74011468A>C , CM000667.1:g.74011468A>C | GRCh37 |
| NC_000005.8:g.74047224A>C | NCBI36 |
| NG_009770.1:g.35500A>C | |
| NG_009770.2:g.80621A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1035A>C MANE Select | ENSP00000261416.7:p.Pro345= | |
| ENST00000261416.11:c.1035A>C | ENSP00000261416.7:p.Pro345= | |
| ENST00000504459.5:n.232A>C | ||
| ENST00000511181.5:c.360A>C | ENSP00000426285.1:p.Pro120= | |
| ENST00000513336.5:c.58A>C | ||
| NM_000521.3:c.1035A>C | NP_000512.1:p.Pro345= | |
| NM_001292004.1:c.360A>C | NP_001278933.1:p.Pro120= | |
| NM_000521.4:c.1035A>C MANE Select | NP_000512.2:p.Pro345= | |
| NM_001292004.2:c.360A>C | NP_001278933.1:p.Pro120= |